Acrocallosal Syndrome, Schinzel Type

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Acrocallosal Syndrome, Schinzel Type is not the name you expected.

Disorder Subdivisions

None

General Discussion

Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, including among affected members of the same family (kindred). However, the disorder is typically characterized by underdevelopment (hypoplasia) or absence (agenesis) of the thick band of nerve fibers joining the two hemispheres of the brain (corpus callosum) and moderate to severe mental retardation. In addition, many affected individuals have malformations of the skull and facial (craniofacial) region and/or distinctive abnormalities of the fingers and toes (digits). Characteristic craniofacial abnormalities may include an unusually large head (macrocephaly) with a prominent forehead, widely spaced eyes (ocular hypertelorism), downslanting eyelid folds (palpebral fissures), a small nose with a broad nasal bridge; and malformed (dysplastic) ears. Most affected individuals also have distinctive digital malformations, such as the presence of extra (supernumerary) fingers and toes (polydactyly) and webbing or fusion (syndactyly) of certain digits. Additional physical abnormalities may also be present, including growth retardation, resulting in short stature. Although autosomal recessive inheritance has been suggested, acrocallosal syndrome often appears to occur randomly for unknown reasons (sporadically).

Supporting Organizations

AmeriFace

PO Box 751112

Las Vegas, NV 89136

USA

Tel: (702)769-9264

Fax: (702)341-5351

Tel: (888)486-1209

Email: info@ameriface.org

Website: http://www.ameriface.org

American Heart Association

7272 Greenville Avenue

Dallas, TX 75231

Tel: (214)784-7212

Fax: (214)784-1307

Tel: (800)242-8721

Email: Review.personal.info@heart.org

Website: http://www.heart.org

Epilepsy Foundation

8301 Professional Place

Landover, MD 20785-7223

Tel: (866)330-2718

Fax: (877)687-4878

Tel: (800)332-1000

Email: ContactUs@efa.org

Website: http://www.epilepsyfoundation.org

FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Website: http://www.faces-cranio.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Hydrocephalus Association

4340 East West Highway Ste 950

Bethesda, MD 20814

USA

Tel: (301)202-3811

Fax: (301)202-3813

Tel: (888)598-3789

Email: info@hydroassoc.org

Website: http://www.hydroassoc.org

Let's Face It

University of Michigan, School of Dentistry / Dentistry Library

1011 N. University

Ann Arbor, MI 48109-1078

USA

Tel: (360)676-7325

Email: faceit@umich.edu

Website: http://dent.umich.edu/

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065

Email: 2020@nei.nih.gov

Website: http://www.nei.nih.gov/

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

National Hydrocephalus Foundation

12413 Centralia Rd.

Lakewood, CA 90715-1653

USA

Tel: (562)924-6666

Fax: (562)924-6666

Tel: (888)857-3434

Email: nhf@earthlink.net

Website: http://www.nhfonline.org

National Organization for Disorders of the Corpus Callosum

PMB 363

18032-C Lemon Drive

Yorba Linda, CA 92886

Tel: (714)747-0063

Fax: (714)693-0808

Email: info@nodcc.org

Website: http://www.nodcc.org

The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

Email: info@thearc.org

Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 8/8/2007Copyright 2007 National Organization for Rare Disorders, Inc.

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